rs142120325

This variant is located in the CUBN gene.

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ClinVar annotation

Conflicting Classifications
3 submitters2 publications

Inborn genetic diseases; Imerslund-Grasbeck syndrome type 1;Proteinuria, chronic benign; Imerslund-Grasbeck syndrome

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About CUBN

Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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